Split hand/foot malformation with long bone deficiency associated with BHLHA9 gene duplication: a case report and review of literature

Autor: Chamara Sampath Paththinige, Nirmala Dushyanthi Sirisena, Fabienne Escande, Sylvie Manouvrier, Florence Petit, Vajira Harshadeva Weerabaddana Dissanayake

Publikováno v: BMC Medical Genetics, Vol 20, Iss 1, Pp 1-7 (2019)

Abstract Background Split hand/foot malformation (SHFM) is a group of congenital skeletal disorders which may occur either as an isolated abnormality or in syndromic forms with extra-limb manifestations. Chromosomal micro-duplication or micro-triplic

Externí odkaz: https://doaj.org/article/60b743b3c30a4c4ab374106343dc21ce

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Loss of bhlha9 Impairs Thermotaxis and Formalin-Evoked Pain in a Sexually Dimorphic Manner

Autor: Nissim Ben-Arie, Aziz Moqrich, Pascale Malapert, Catarina Santos, Irène Marics, Yves Le Feuvre, Andrew J. Saurin, Chiara Salio, Ana Reynders, Manon Bohic

Publikováno v: Cell Reports
Cell Reports, Elsevier Inc, 2020, 30 (3), pp.602-610.e6. ⟨10.1016/j.celrep.2019.12.041⟩
Cell Reports, Vol 30, Iss 3, Pp 602-610.e6 (2020)
Cell Reports, 2020, 30 (3), pp.602-610.e6. ⟨10.1016/j.celrep.2019.12.041⟩

Summary: C-LTMRs are known to convey affective aspects of touch and to modulate injury-induced pain in humans and mice. However, a role for these neurons in temperature sensation has been suggested, but not fully demonstrated. Here, we report that de

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7b4ea0f9d7a17c54ccb9bd0aca993ac0
https://pubmed.ncbi.nlm.nih.gov/31968239

Split hand/foot malformation with long bone deficiency associated with BHLHA9 gene duplication: a case report and review of literature

Autor: C. S. Paththinige, Florence Petit, Nirmala D. Sirisena, Vajira H. W. Dissanayake, Fabienne Escande, Sylvie Manouvrier

Publikováno v: BMC Medical Genetics
BMC Medical Genetics, Vol 20, Iss 1, Pp 1-7 (2019)

Background Split hand/foot malformation (SHFM) is a group of congenital skeletal disorders which may occur either as an isolated abnormality or in syndromic forms with extra-limb manifestations. Chromosomal micro-duplication or micro-triplication inv

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1e4252eda445310c58165da42513658d
https://pubmed.ncbi.nlm.nih.gov/31200655

17p13.3 genomic rearrangement in a Chinese family with split-hand/foot malformation with long bone deficiency: report of a complicated duplication with marked variation in phenotype

Autor: Zhe Liu, Xue Zhang, Yuqi Shen, Nuo Si, Ying Zhang, Xiaolu Meng, Fang Liu

Publikováno v: Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-9 (2018)

Background Split hand/foot malformation (SHFM) is a genetically heterogeneous limb malformation with variable expressivity. SHFM with tibia or femur aplasia is called SHFM with long bone deficiency (SHFLD). 17p13.3 duplications containing BHLHA9 are

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d618aa14e8f834d117b25b0d1c477754
https://pubmed.ncbi.nlm.nih.gov/29970136